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Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses
Yan, Liying1; Huang, Lei2; Xu, Liya2; Huang, Jin1,3,4; Ma, Fei2; Zhu, Xiaohui1,3,4; Tang, Yaqiong2; Liu, Mingshan2; Lian, Ying1; Liu, Ping1; Li, Rong1,3,4; Lu, Sijia5; Tang, Fuchou2,6,7; Qiao, Jie1,3,4,7; Xie, X. Sunney2,8
关键词monogenic diseases chromosome abnormality IVF PGD MALBAC
刊名PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
2015-12-29
DOI10.1073/pnas.1523297113
112期:52页:15964-15969
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]PREIMPLANTATION GENETIC DIAGNOSIS ; GENOME AMPLIFICATION ; HUMAN BLASTOCYSTS ; REAL-TIME ; IN-VITRO ; ANEUPLOIDY ; EMBRYOS ; PGD ; DISORDERS ; CELLS
英文摘要

In vitro fertilization (IVF), preimplantation genetic diagnosis (PGD), and preimplantation genetic screening (PGS) help patients to select embryos free of monogenic diseases and aneuploidy (chromosome abnormality). Next-generation sequencing (NGS) methods, while experiencing a rapid cost reduction, have improved the precision of PGD/PGS. However, the precision of PGD has been limited by the false-positive and false-negative single-nucleotide variations (SNVs), which are not acceptable in IVF and can be circumvented by linkage analyses, such as short tandem repeats or karyomapping. It is noteworthy that existing methods of detecting SNV/copy number variation (CNV) and linkage analysis often require separate procedures for the same embryo. Here we report an NGS-based PGD/PGS procedure that can simultaneously detect a single-gene disorder and aneuploidy and is capable of linkage analysis in a cost-effective way. This method, called "mutated allele revealed by sequencing with aneuploidy and linkage analyses" (MARSALA), involves multiple annealing and looping-based amplification cycles (MALBAC) for single-cell whole-genome amplification. Aneuploidy is determined by CNVs, whereas SNVs associated with the monogenic diseases are detected by PCR amplification of the MALBAC product. The false-positive and -negative SNVs are avoided by an NGS-based linkage analysis. Two healthy babies, free of the monogenic diseases of their parents, were born after such embryo selection. The monogenic diseases originated from a single base mutation on the autosome and the X-chromosome of the disease-carrying father and mother, respectively.

语种英语
WOS记录号WOS:000367234700063
项目编号31230047 ; 31322037 ; 31440063 ; 31522034 ; 2015AA020407 ; Z131100005213006 ; D151100002415000 ; 2011CB944500 ; 2012CB966704
资助机构National Natural Science of China ; National High Technology Research and Development Program ; Beijing Municipal Science and Technology Commission ; Peking University Grant for Translational Research ; National Basic Research Program of China
引用统计
被引频次:30[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/63589
专题北京大学第三临床医学院
北京大学第三临床医学院_妇产科
北京大学第三临床医学院_生殖医学中心
作者单位1.Peking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100191, Peoples R China
2.Peking Univ, Coll Life Sci, Biodynam Opt Imaging Ctr, Beijing 100871, Peoples R China
3.Minist Educ, Key Lab Assisted Reprod, Beijing 100191, Peoples R China
4.Beijing Key Lab Reprod Endocrinol & Assisted Repr, Beijing 100191, Peoples R China
5.Yikon Genom Inc, Taizhou 225300, Jiangsu, Peoples R China
6.Minist Educ, Key Lab Cell Proliferat & Differentiat, Beijing 100871, Peoples R China
7.Harvard Univ, Dept Chem & Chem Biol, Cambridge, MA 02138 USA
8.Peking Univ, Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Yan, Liying,Huang, Lei,Xu, Liya,et al. Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,2015,112(52):15964-15969.
APA Yan, Liying.,Huang, Lei.,Xu, Liya.,Huang, Jin.,Ma, Fei.,...&Xie, X. Sunney.(2015).Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses.PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,112(52),15964-15969.
MLA Yan, Liying,et al."Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses".PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 112.52(2015):15964-15969.
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